NLRP6 Gene
protein-coding GIFtS: 45
GCID: GC11P000269
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NLR family, pyrin domain containing 6(Previous names: NACHT, leucine rich repeat and PYD containing 6 )
(Previous symbol: NALP6)
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Aliases
for NLRP6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NLR Family, Pyrin Domain Containing 61 2 | | PYRIN-Containing APAF1-Like Protein 52 3 | | NALP61 2 3 5 | | AVR2 | | PYPAF51 2 3 5 | | NAVR2 | | CLR11.41 2 | | NAVR/AVR2 | | PAN31 2 | | NACHT, LRR And PYD Containing Protein 62 | | NACHT, Leucine Rich Repeat And PYD Containing 61 2 | | NACHT, LRR And PYD Domains-Containing Protein 62 | | Angiotensin II/Vasopressin Receptor2 3 | | Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin DomainContaining 62 |
Export aliases for NLRP6 gene to outside databasesPrevious GC identifer: GC11P000098 |
Summaries
for NLRP6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NLRP6:
The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediatedregulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allowrecovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally,this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMPaccumulation. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,Feb 2013)
UniProtKB/Swiss-Prot: NALP6_HUMAN, P59044Function: May contribute to arginine-vasopressin (AVP)-mediated regulation of renal salt-water balance, glucose andlipid metabolism, apoptosis, and/or cell cycle. Binds arginine-vasopressin but not angiotensin II and acts as anarginine-vasopressin V2 receptor. Plays a role in modulating inflammatory responses in the colon to allow recoveryfrom intestinal epithelial damage and limit tumorigenic potential. Protects against the development of colitis bycontrolling the composition of the gut microbiota by preventing colonization of the colon by harmful,inflammation-inducing bacteria such as Prevotella species. May mediate activation of CASP1 via ASC, promote activationof NF-kappa-B and stimulate cAMP accumulation (By similarity)
Gene Wiki entry for NLRP6
|
Genomic Views
for NLRP6 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NLRP6 gene promoter:
AP-1 ATF-2 STAT5A NF-kappaB LCR-F1 HNF-4alpha1 AREB6 CRE-BP1 NF-kappaB2 NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for NLRP6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP6 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15NLRP6 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P000269: view genomic region
(about GC identifiers)
Start:
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278,365 bp from pter |
End:
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285,359 bp from pter |
Size:
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6,995 bases |
Orientation:
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plus strand |
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Proteins
for NLRP6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NALP6_HUMAN, P59044 (See
protein sequence)Recommended Name: NACHT, LRR and PYD domains-containing protein 6 Size: 892 amino acids; 98768 Da
Subunit: Binds to ASC with its DAPIN domain
Subcellular location: Cytoplasm. Cell membrane (By similarity). Nucleus membrane (By similarity)
Secondary accessions: A8K9F3Explore the universe of human proteins at neXtProt for NLRP6: NX_P59044
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P59044
NLRP6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001263629.1 NP_612202.2
ENSEMBL proteins: ENSP00000433617 ENSP00000309767
Human Recombinant Protein Products for NLRP6:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
NLRP6 for ontologies About GeneDecksing
NLRP6 Antibody Products:
Assay Products for NLRP6: |
Protein
Domains /
Families
for NLRP6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NLRP6 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P59044ProtoNet protein and cluster: P59044 3 Blocks protein families: IPB000767 Disease resistance protein signature IPB003590 Leucine-rich repeat IPB004020 Pyrin domain
UniProtKB/Swiss-Prot: NALP6_HUMAN, P59044Similarity: Belongs to the NLRP familySimilarity: Contains 1 DAPIN domainSimilarity: Contains 5 LRR (leucine-rich) repeatsSimilarity: Contains 1 NACHT domain |
Function
for NLRP6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: NALP6_HUMAN, P59044Function: May contribute to arginine-vasopressin (AVP)-mediated regulation of renal salt-water balance, glucose andlipid metabolism, apoptosis, and/or cell cycle. Binds arginine-vasopressin but not angiotensin II and acts as anarginine-vasopressin V2 receptor. Plays a role in modulating inflammatory responses in the colon to allow recoveryfrom intestinal epithelial damage and limit tumorigenic potential. Protects against the development of colitis bycontrolling the composition of the gut microbiota by preventing colonization of the colon by harmful,inflammation-inducing bacteria such as Prevotella species. May mediate activation of CASP1 via ASC, promote activationof NF-kappa-B and stimulate cAMP accumulation (By similarity) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
NLRP6 for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for NLRP6:
11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nlrp6):
NLRP6 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Nlrp6tm1Macha for NLRP6
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NLRP6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP6 |
|
Pathways & Interactions
for NLRP6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NLRP6
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0050727 | regulation of inflammatory response |
ISS | -- |
NLRP6 for ontologies About GeneDecksing
|
Drugs & Compounds
for NLRP6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NLRP6
Search CenterWatch for drugs/clinical trials and news about NLRP6 / NALP6
|
Transcripts
for NLRP6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NLRP6 gene (2 alternative transcripts): NM_001276700.1 NM_138329.2 Unigene Cluster for NLRP6: NLR family, pyrin domain containing 6 Hs.352611 [show with all ESTs]Unigene Representative Sequence: AK2926683 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000534750(uc010qvt.2) ENST00000312165(uc010qvs.2) ENST00000527946
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NLRP6 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NLRP6
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NLRP6 (NM_138329) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NLRP6 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NLRP6 |
Additional cDNA sequence: AF479748.1 AK292668.1 AY154461.1 2 DOTS entries: DT.102835925 DT.120751126 10 AceView cDNA sequences: CD677002 CD636366 AI344276 CD636372 AF479748 NM_138329 CD636374 CD636369 AY154461 CD636368
GeneLoc Exon Structure
|
Expression
for NLRP6 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NLRP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGACCTACC
About this image
See NLRP6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NLRP6
SOURCE GeneReport for Unigene cluster: Hs.352611
UniProtKB/Swiss-Prot: NALP6_HUMAN, P59044Tissue specificity: Highly expressed in granulocytes. Detected at much lower levels in T-cells
SABiosciences Expression via Pathway-Focused PCR Array including NLRP6:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NLRP6
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NLRP6 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NLRP6 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NLRP6 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP6 |
Orthologs
for NLRP6 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for NLRP6 gene from 3/9 species (see all 9) About this table
ENSEMBL Gene Tree for NLRP6 (if available)
TreeFam Gene Tree for NLRP6 (if available) |
Paralogs
for NLRP6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NLRP6 gene
- NLRP132 NLRP42 NLRP92 NLRP32 NLRP142 NLRP72 NLRP112 NLRP102
- NLRP22 NLRP52 NLRP12 NLRP82 NLRP122
3 SIMAP similar genes for NLRP6 using alignment to 2 protein entries: NALP6_HUMAN (see all proteins):MEFV NLRP12 NLRP3
NLRP6 for paralogs About GeneDecksing
|
Genomic Variants
for NLRP6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NLRP6
1 CNV: 6912
1 Inversion: 37118 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NLRP6 |
|
Disorders
/ Diseases
for NLRP6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NLRP6 for disorders About GeneDecksing
OMIM gene information: 609650
OMIM disorders: --
3  diseases for NLRP6: About MalaCardscrohn's disease hepatitis b hepatitis
Human Genome Epidemiology (HuGE) Navigator: NLRP6 (2 documents)
Export disorders for NLRP6 gene to outside databases
|
Publications
for NLRP6 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NLRP6 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with NLRP6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 2, 3 Tschopp J....Burns K. (2003)
- PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PubMed id 12019269)1, 2, 3 Wang L.... Bertin J. (2002)
- Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. (PubMed id 12387869)1, 2, 9 Grenier J.M.... Bertin J. (2002)
- Aggregatibacter actinomycetemcomitans targets NLRP3 an d NLRP6 inflammasome expression in human mononuclear leukocytes. (PubMed id 22503597)1 Belibasakis G.N. and Johansson A. (2012)
- AVR/NAVR deficiency lowers blood pressure and differen tially affects urinary concentrating ability, cognition, and anxiety-like behavi or in male and female mice. (PubMed id 20923861)1 Herrera V.L....Ruiz-Opazo N. (2011)
- New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1 Gieger C....Soranzo N. (2011)
- New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
- The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)1 Cummings J.R....Jewell D.P. (2010)
- Overlapping genes in Nalp6/PYPAF5 locus encode two V2-type vasopressin isoreceptors: angiotensin-vasopressin receptor (AVR) and non-AVR. (PubMed id 18413781)1 Herrera V.L....Ruiz-Opazo N. (2008)
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
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External Searches for NLRP6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NLRP6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NLRP6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NLRP6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NLRP6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NLRP6 gene:
Search GeneIP for patents involving NLRP6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NLRP6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP6 |
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